Jan. 9, 2014 The Fleckvieh is a breed of cattle that originated in the Alpine region. A robust animal, it is now found on every continent, with an estimated worldwide population of around 40 million.

In Germany, there are approximately 1 million Fleckvieh dairy cows: "Their genomes can be traced back to a small number of key ancestors," explains Prof. Ruedi Fries, Chair of Animal Breeding at TUM. "With artificial insemination, male breeding animals can produce more than one hundred thousand offspring."

Infertility caused by a single gene

This practice is fraught with risk, however: If the genetic make-up of any animal contains an unidentified defect, this characteristic will be passed on to future generations. TUM researchers have now discovered that a mutation in the TMEM95 gene on cattle chromosome 19 makes bulls effectively infertile, with a success rate for insemination of less than 2 percent.

"Otherwise, the animals are perfectly healthy and normal," points out Dr. Hubert Pausch, lead author of the study. "The characteristic only manifests itself if bulls inherit the mutation from both the male and female side, i.e. they are homozygous for the defective gene. It is only in this case that the animals should be excluded from breeding." Routine genetic testing for all breeding bulls has been underway since August 2012.

Findings of interest for human medicine

As part of their study, the researchers compared the genome of 40 subfertile animals with 8,000 breeding bulls with normal fertility levels. They discovered that the genetic defect can be traced back to one Fleckvieh animal born in 1966.

The TMEM95 gene encodes a protein on the surface of the sperm heads. The protein probably mediates the binding process between the sperm and egg cells. If it is missing, fertilization will not occur.

"Our findings indicate that genetic defects in TMEM95 could also cause infertility in men," elaborates Pausch. During their investigation of the sperm of infertile breeding bulls, the TUM scientists collaborated with Prof. Sabine Klle and Dr. Matthias Trottmann from Munich's Ludwig Maximilian University. Trottmann helps couples with infertility problems.

Genetic analysis for healthier animals

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Genetic testing to produce more offspring

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A rare genetic mutation that disrupts the production of histamine may help researchers unravel the mystery that surrounds Tourette syndrome.

The mutation discovered by Yale researchers can cause the kinds of tics and other abnormalities that are the hallmark of the syndrome, according to a study published Wednesday in the journal Neuron.

Thus far the genetic anomaly has been discovered only in nine members of a single family: a father and all eight of his children who have both the mutation and Tourette syndrome.

We know that Tourette is about 90 percent genetic, said study coauthor Dr. Christopher Pittenger, an associate professor of psychiatry and psychology at the Yale University School of Medicine and director of the Yale OCD research clinic. But its been incredibly hard to find any genetic abnormalities that cause the syndrome. We have proven that this gene really is the cause of Tourette in this family and also looked at some of its downstream effects.

Courtesy Jeffrey Kramer

Jeffrey Kramer and his three sons. Kramer and two of his grown-up sons have been living with Tourette for decades. Hes excited by the new findings, but realistic about their impact on patients with the syndrome.

What isnt known yet is how, or if, this finding can be extended to other people with Tourette, Pittenger and other experts said.

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Rare genetic mutation discovered in Tourette syndrome family

FARGO Denny Sanford was recovering from possibly fatal blood clots in his lungs when he decided to invest $125 million to bring genetic medicine into the mainstream.

Sanford became ill on a hunting trip in south-central South Dakota in October, about 140 miles west of Sioux Falls.

Doctors there suspected he had pneumonia, but Sanfords personal physician, Dr. Eric Larson of Sanford Health, suspected a pulmonary embolism a blood clot in the lungs and arranged for an air ambulance to whisk him to Sioux Falls.

He really saved my life, Sanford said in a telephone interview with The Forum, referring to Larson, an internal medicine doctor and one of the champions of the new genetic medicine initiative Sanford Health announced Tuesday.

Sanford, who is in his late 70s, did not attend Tuesdays announcement, which was made in Sioux Falls, and simulcast to Sanford medical centers in Fargo, Bismarck and Bemidji, Minn.

While recuperating in his namesake hospital in Sioux Falls, Sanford reminded Kelby Krabbenhoft, Sanford Healths top executive, that his team was preparing a genetic medicine proposal.

He invited them to make their pitch two days later, when he was convalescing at home. Sanfords recent medical emergency made him receptive to the idea of placing results of genetic testing tools in the hands of primary care physicians.

It was an opportune time to lay it out on me, Sanford said, chuckling about the timing and his gratitude for the care he received.

I believe that is the medicine of the future, added Sanford, referring to the use of genetic information in tailoring health care. He recently donated $100 million to a stem cell research program in California.

Sanford, a St. Paul native who founded Premier Bank, now has donated more than $1 billion, much of it to Sanford Health, beginning with a $400 million gift in 2007.

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Denny Sanford believes genetic medicine is 'the medicine of the future'

FARGO Sanford Health is embarking on a major initiative to integrate genetic information with primary care enabled by a $125 million gift from namesake benefactor T. Denny Sanford.

The new effort, announced Tuesday, is billed by Sanford as the first of its kind in the nation to marry genetic screening with internal medicine doctors throughout its clinic system.

The so-called Sanford Imagenetics program will begin offering patients the opportunity for precise genetic testing and genetic counseling later this year.

This is the frontier of medicine, Sanfords top executive, Kelby Krabbenhoft, said in making the announcement. This is whats going to change everything for everybody.

Sanfords gift will allow the health system to hire and train teams of specialists in a collaboration that also will involve academic centers in the Sanford service area for research, and training physicians and other providers.

Each of Sanfords four regional hubs Sioux Falls, S.D., Fargo, Bismarck, and Bemidji, Minn. will have specialists who will work closely with internal medicine doctors.

Sanford already has seven genetic counselors, including two in Fargo, and five medical geneticists.

Through telemedicine and targeted outreach efforts, the program will be available to patients throughout Sanfords sprawling service area that includes North Dakota, South Dakota, Minnesota, Iowa and Montana.

A portion of Sanfords gift will be used for a new genetic medicine center at its campus near downtown Sioux Falls, with construction to begin in spring 2015.

We will have the same resources, said Dr. Julie Blehm, a senior internal medicine doctor at the Sanford Medical Center in Fargo. Were going to have the same opportunities.

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Sanford announces $125 million genetic medicine initiative

(MENAFN - Muscat Daily) A Weill Cornell Medical College study that analysed the DNA of Qatar's native population has discovered genetic variations that could help doctors target interventions to reduce the prevalence of a variety of debilitating hereditary disorders

Researchers at Weill Cornell Medical College in Qatar (WCMC-Q) and Weill Cornell Medical College in New York (WCMC-NY), working with colleagues from Cornell University in Ithaca and Hamad Medical Corporation, identified 37 genetic variants in 33 genes known to play causal roles in a total of 36 diseases, including such devastating conditions as cystic fibrosis, sickle cell anemia and muscular dystrophy. The study points the way to more comprehensive screening for a host of inherited diseases, which could significantly reduce their incidence.

The project titled, 'Exome Sequencing Identifies Potential Risks Variants for Mendelian Disorders at High Prevalence in Qatar' sequenced the DNA of 100 Qatari nationals representing the three major ethnic subgroups of the country the Bedouin (termed Q1 for the purposes of the study), those of Persian-South Asian descent (Q2), and those of African descent (Q3). By analysing the individuals' exomes important sections of the DNA containing the code that is translated into proteins and comparing them to the genetic data of the participants in the worldwide 1,000 Genomes Project (1000G), the researchers were able to identify the variations that cause disease among the Qatari population.

All the conditions targeted in the study were so-called Mendelian diseases'. Named after Gregor Mendel, the 19th century researcher widely regarded as the founder of genetic science, Mendelian diseases are those caused by a single mutated gene and are also known as monogenic disorders.

Dr Khalid Fakhro, postdoctoral associate in genetic medicine at WCMC-Q, and Dr Juan L Rodriguez-Flores of WCMC-NY, were co-lead principal investigators in the study, which is part of a group of research projects investigating the Qatari genome led by Dr Ronald Crystal, chairman of Genetic Medicine at Weill Cornell Medical College in New York. The study has been accepted for publication in the journal Human Mutation, appearing online in December 2013 and in print in January 2014.

Dr Crystal explained the study: ''There are about 3.2bn letters that comprise the human genome and about two percent of those letters code for the actual proteins. This two per cent is found in regions called exomes,'' he said. ''A Mendelian or monogenic disease is caused by a change in a single letter out of the 3.2bn.

''The reason this is relevant for Qatar is that the structure of the society encourages a high degree of consanguineous marriage, so the frequency of these monogenic diseases is quite high,'' he said.

Pre-marital counseling and screening is one method of decreasing the likelihood of children being born with monogenic diseases. Parents undergo screening to see if either or both carry genetic variations that cause disease before having children. The individuals that carry the disorder do not necessarily have the conditions themselves, but may carry them on recessive genes.

Dr Crystal added, ''Disorders are present in all populations around the world, so Qatar is no different. Qatar is only different in that its variations and the frequency with which they occur are unique to its population. By finding out what these variations are and taking appropriate action we can save people from the trauma of some very unpleasant disorders. We're talking here about things like brain malformation, diabetes, blindness, deafness, cardiovascular disorders, inflammatory disorders and many other conditions. While these conditions are not common, they do occur, some are untreatable and many are very difficult to live with, for both the sufferer and their families.''

Currently, pre-marital counseling in Qatar screens for four genetic variations out of the 37 identified by the study, so incorporating the newly discovered variations into the screening process could have a significant impact.

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Mapping the Qatari shows way to prevention of inherited diseases

Christmas was two weeks ago but Sanford Health received quite the gift Tuesday morning. $125 Million, that's how much philanthropist Denny Sanford has pledged to help launch a brand new system of patient treatment.

A lot of people will probably just look at the $125 Million and be blown away by the amount, but what that money will do is far more amazing. With the gift, Sanford is launching Imagenetics to fighting disease on the molecular level. This is personalized medicine where your DNA helps determine the best course of treatment. This will help cut down on the number of medications, limit side-effects, and could even help doctors treat the condition before symptoms show up. Genetic medicine is already being utilized by Sanford doctors to treat cancers and other conditions, but this will take those practices to the clinic as well.

"This really gets to what we call precision medicine that is using the tools of genetics to precisely take care of you as an individual." Said Dr. H. Eugene Hoyme, a geneticist and president of Sanford Research.

"Once again he's taken what was possible and today has made it practical for everybody. Thank you Mr. Sanford." Said Kelby Krabbenhoft, president and CEO of Sanford Health.

The money will be spread throughout the Sanford Health system to build facilities for genetic research and testing. Those projects are expected to break ground starting in the spring of 2015.

In addition to the donation, Sanford announced partnerships with Augustana College, and the Universities of North Dakota and South Dakota to train the next wave of genomic health professionals. Krabbenhoft says this donation puts Mr. Sanford over the $1 Billion mark in charitable gifts. His largest donation came back in 2007, giving $400 million dollars to Sanford Health.

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Sanford donates $125M to launch genetic medicine program

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Newswise (Sioux Falls, SD) Sanford Health announced today Denny Sanford, the preeminent health care philanthropist in the United States, will gift the organization $125 million to establish Sanford Imagenetics, a first-of-its-kind program in the country that integrates genomic medicine into primary care for adults.

Mr. Sanfords generosity to this organization is humbling, said Kelby Krabbenhoft, president and CEO of Sanford Health. Including this $125 million gift, Denny has given Sanford Health nearly a billion dollars. Its an incredible honor as well as a tremendous responsibility.

Internal medicine physicians assist adult patients by diagnosing and managing complex health issues. Later this year, Sanford Imagenetics will offer patients the opportunity to undergo precise genetic testing and genetic counseling which will provide internal medicine physicians with unprecedented patient-specific information. Arming these physicians with their patients genetic information will improve their ability to prescribe the right medication, appropriate dose or most effective treatment with drugs such as statins and blood thinners.

Most physicians can only dream of what it would be like to practice not only on the cutting edge of medical advancement but also work to fundamentally change how patients are treated. The creation of this environment does not occur spontaneously. It requires great leadership and generosity at a level not previously seen, said Eric Larson, MD, board-certified internal medicine physician with Sanford Health.

Sanford Health has a long-standing history of providing comprehensive genetic health care to the region. With Sanford Imagenetics, Sanfords MD geneticists, genetic counselors and diagnostic clinical genetics laboratories will move hand in hand with the organizations internal medicines physicians. There are currently no organizations in the country that similarly embed genetics health care professionals into these primary care practices.

Thanks to Mr. Sanfords continued generosity, Sanford Health will take a national lead role in using existing genetic markers and incorporating future discoveries for internists to individualize care for patients with cancer, diabetes, hypertension, coronary artery disease and other conditions, said Dan Blue, MD, president Sanford Clinic.

Sanford Imagenetics will include development of a rigorous research program to define the genomic markers most successful in managing primary care for adults.

We will also study the outcomes to evaluate the efficacy of this approach as well as in-depth bioinformatics research focused on the practical clinical interpretation of the complicated biological data, said Gene Hoyme, MD, president of Sanford Research and board certified geneticist.

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Sanford Health Announces $125M Gift to Fund Genomic Initiative for Internal Medicine

Clinical Chemistry Womens Health Issue Explores the Ethics of Genetic Testing for Reproduction

WASHINGTON, Jan. 6, 2014 /Emag.co.uk/ Jodi Picoults 2004 novel My Sisters Keeper became a bestseller by exploring the fate of a young girl who is genetically engineered to be a donor match for her cancer-stricken older sister. My Sisters Keeper is fiction, but it is based on the reality of preimplantation genetic diagnosis (PGD). A new Q&A in the Advancing Womens Health issue of Clinical Chemistry, the journal of AACC, explores the ethics of PGD, a form of genetic testing that has already made it possible for parents to conceive a child who is a donor match for a sick relative, who shares their minor disability (such as deafness), or to select gender.

(Photo:Listen to a podcast with Q&A moderator Ann M. Gronowski, PhD, and bioethicist Arthur L. Caplan, PhD.

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PGD was developed after the invention of in vitro fertilization and the ability to culture embryos in vitro, and in many respects, it is similar to the prenatal diagnosis used to screen fetuses for genetic diseases before birth. Its advantage is that it allows parents to choose which embryos to implant in the uterus, thereby avoiding selective pregnancy terminations. For older mothers or couples who are carriers of a genetic disease, the ability to screen for embryos free of certain genetic mutations can play a critical role in ensuring their child is healthy. The more recent and nonstandard uses of PGD listed above, however, have raised ethical concerns, particularly that PGD is veering into the realm of eugenics.

In this Q&A, PGD laboratory director Richard T. Scott, Jr., MD, of Reproductive Medicine Associates of New Jersey, Morristown, N.J.; bioethicist Arthur L. Caplan, PhD, of the New York University Langone Medical Center, New York; and attorney Lawrence J. Nelson, PhD, of Santa Clara University, Santa Clara, Calif., discuss their views on the ethical challenges PGD presents. Former AACC President Ann M. Gronowski, PhD, of the Washington University School of Medicine, St. Louis, acts as moderator.

I think many infertility clinics will be offering PGD for eugenic purposes and there will be plenty of demand for such services, said Caplan, when asked where he thinks the field will be in 20 years. I think there will be a huge ethical controversy concerning the practice, in that competent counseling may not be an essential part of what many clinics are offering. There will also be keen ethical concerns about the equity of access to such services, in that the rich will have far greater access than the poor.

Scott tempers this alarm by pointing out that extensive research is still needed to fully understand which mutations in our genetic code cause disease. By extension, it could be a long time before we grasp the human genomes complexities well enough to optimize traits by rewriting it. Until then, the Clinical Chemistry Q&A aims to raise greater awareness and spark further debate about this complicated issue.

For more, follow us on Twitter at @_AACC and @Clin_Chem_AACC.

Twitter ChatTo add your voice to the conversation, join Dr. Gronowski (@Clin_Chem_AACC) for a Twitter chat on maternal-fetal medicine and reproductive health.

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Designing Genes Through Diagnosis

Mysterious episodes of genetic duplication in our great ape ancestors may have paved the way for human evolution

By Emily Singer and Quanta Magazine

SRGAP2: Whereas chimps and orangutans have only one, humans have multiple copies of the gene SRGAP2 which is believed to be involved in the development of the brain. Image: Dennis/Cell/Quanta

From Quanta Magazine (find original story here).

About 8 million to 12 million years ago, the ancestor of great apes, including humans, underwent a dramatic genetic change. Small pieces of DNA replicated and spread across their resident chromosomes like dandelions across a lawn. But as these dandelion seeds dispersed, they carried some grass and daisy seeds additional segments of DNA along for the ride. This unusual pattern, repeated in different parts of the genome, is found only in great apes bonobos, chimpanzees, gorillas and humans.

I think its a missing piece of human evolution, said Evan Eichler, a geneticist at the University of Washington, in Seattle. My feeling is that these duplication blocks have been the substrate for the birth of new genes.

Over the past few years, scientists have begun to uncover the function of a handful of genes that reside in these regions; they seem to play an important role in the brain, linked to the growth of new cells, as well as brain size and development. In September, Eichlers team published a new technique for analyzing how these genes vary from person to person, which could shed more light on their function.

Much about the duplication process and its implications remains a mystery. Eichler and others dont know what spurred the initial rounds of duplications or how these regions, dubbed core duplicons, reproduced and moved around the genome.

Despite the duplication-linked genes potential importance in human evolution, most have not been extensively analyzed. The repetitive structure of the duplicated regions makes them particularly difficult to study using standard genetic approaches the most efficient methods for sequencing DNA start by chopping up the genome, reading the sequence of the small chunks and then assembling those sections like one would a puzzle. Trying to assemble repetitive sections is like trying to put together a puzzle made of pieces with almost the same pattern.

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A Missing Genetic Link in Human Evolution

Among the many stents, surgical clamps, pumps and other medical devices that have recently come before the Food and Drug Administration for clearance, none has excited the widespread hopes of physicians and researchers like a machine called the Illumina MiSeqDx.

This compact DNA sequencer has the potential to change the way doctors care for patients by making personalized medicine a reality, experts say.

"It's about time," said Michael Snyder, director of the Stanford Center for Genomics and Personalized Medicine.

Physicians who rely on genetic tests to guide their patients' treatment have had to order scans that reveal only small parts of a patient's genome, as if peeking through a keyhole, Snyder said: "Why would you study just a few genes when you can see the whole thing?"

Back in 2000, when the Human Genome Project completed its first draft of the 3 billion base pairs that make up a person's DNA, the effort took a full decade and cost close to $100 million. The Illumina MiSeqDx can pull off the same feat in about a day for less than $5,000 and the results will be more accurate, two of the nation's top physicians gushed in the New England Journal of Medicine.

That confluence of "faster, cheaper and better" is likely to accelerate the use of genetic information in everyday medical care, Dr. Francis Collins, director of the National Institutes of Health, and Dr. Margaret Hamburg, commissioner of the FDA, wrote last month. DNA sequencing should guide physicians in choosing the best drug to treat a specific patient for a specific disease while risking the fewest side effects.

The Illumina MiSeqDx platform works by breaking down, rebuilding and recording the entire sequence of a person's DNA in a massively parallel fashion, completing the job in a matter of hours. The company intends to market the machine to diagnostic labs, medical centers and private practices, at a price slightly more than $125,000.

Now that MiSeqDx has been approved, several other whole-genome sequencers are likely to seek the FDA's blessing in the coming months, agency officials say.

Right away, the technology is poised to improve the diagnosis and treatment of cystic fibrosis. Two new assays for the chronic lung condition both developed by Illumina for use on the MiSeqDx were approved in November by the FDA. Instead of checking for the six mutations most commonly linked to the disease, the new tests are able to discern a total of 139 genetic variations that give rise to cystic fibrosis. They will also tell doctors whether a patient is among the 4% who has a mutation that's targeted by a specific, costly drug.

Whole-genome sequencing has begun to reshape the way physicians diagnose and treat cancer as well. For a growing number of patients, treatment is guided by a DNA scan that reveals which mutation gave rise to the malignancy, not the organ in which the cancer manifests itself.

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DNA sequencer raises doctors' hopes for personalized medicine

Current ratings for: Genetic brain development 'peaks before birth and in adolescence'

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Genetic expression behind the development of our brains is most active before birth, in the early months of pregnancy, and during our teenage years, scientists have found.

There is a quieter intervening "movement" in the three-part "symphony" of human brain development, but one that is more sensitive to environmental factors, say the researchers publishing in the journal Neuron.

The initial surge of brain-developing genetic expression takes place during the first two-thirds of our gestation in the uterus, says the team led from the Yale School of Medicine in New Haven, CT.

The middle intermission then lasts from the final trimester of pregnancy until adolescence, at which point the genetic activity surges again for the final phase of our brain's development.

These two most active spurts relevant to human brain power, found to sandwich the childhood years, involve the development of the cerebral neocortex:

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Genetic brain development 'peaks before birth and in adolescence'

By Traci Pedersen Associate News Editor Reviewed by John M. Grohol, Psy.D. on December 28, 2013

A genetic variant known to make some people hypersensitive to stress is also linked to a 38 percent increased risk of heart attack or death in patients with heart disease, according to researchers at Duke Medicine.

Weve heard a lot about personalized medicine in cancer, but in cardiovascular disease we are not nearly as far along in finding the genetic variants that identify people at higher risk, said senior author Redford B. Williams Jr., M.D., director of the Behavioral Medicine Research Center at Duke University School of Medicine.

Here we have a paradigm for the move toward personalized medicine in cardiovascular disease.

The researchers built on previous work at Duke and elsewhere that identified a variation in a DNA sequence, known as a single nucleotide polymorphism (SNP), where one letter in the genetic code is swapped for another to change the genes function. The team focused on a particular SNP that occurs on the gene that makes a serotonin receptor and causes a hyperactive reaction to stress.

In a previous study, researchers found that men with this genetic variant had twice as much cortisol in their blood when exposed to stress, compared to men without the variant.The stress hormonecortisol is produced in the adrenal gland to support the bodys biological response when reacting to a situation that causes negative emotions.

It is known that cortisol has effects on the bodys metabolism, on inflammation and various other biological functions, that could play a role in increasing the risk of cardiovascular disease, said lead author Beverly H. Brummett, Ph.D., associate professor of psychiatry and behavioral sciences at Duke.

It has been shown that high cortisol levels are predictive of increased heart disease risk. So we wanted to examine this more closely.

The exciting part to me this is that this genetic trait occurs in a significant proportion of people with heart disease, Brummett said. If we can replicate this and build on it, we may be able to find ways to reduce the cortisol reaction to stress either through behavior modification or drug therapies and reduce deaths from heart attack.

Researchers used a database to run a genetic analysis of more than 6,100 white participants, two-thirds of whom were men, and one-third women. About 13 percent of this group had the genetic variation for the overactive stress response.

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Stress Reaction Gene Tied to Heart Attacks

Medical genetics is the specialty of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from Human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, but medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counseling of individuals with genetic disorders would be considered part of medical genetics.

In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.

Medical genetics encompasses many different areas, including clinical practice of physicians, genetic counselors, and nutritionists, clinical diagnostic laboratory activities, and research into the causes and inheritance of genetic disorders. Examples of conditions that fall within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, and mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, teratogens, and prenatal diagnosis. Medical genetics is increasingly becoming relevant to many common diseases. Overlaps with other medical specialties are beginning to emerge, as recent advances in genetics are revealing etiologies for neurologic, endocrine, cardiovascular, pulmonary, ophthalmologic, renal, psychiatric, and dermatologic conditions.

In some ways, many of the individual fields within medical genetics are hybrids between clinical care and research. This is due in part to recent advances in science and technology (for example, see the Human genome project) that have enabled an unprecedented understanding of genetic disorders.

Clinical genetics is the practice of clinical medicine with particular attention to hereditary disorders. Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, and many others. Examples of genetic syndromes that are commonly seen in the genetics clinic include chromosomal rearrangements, Down syndrome, DiGeorge syndrome (22q11.2 Deletion Syndrome), Fragile X syndrome, Marfan syndrome, Neurofibromatosis, Turner syndrome, and Williams syndrome.

Metabolic (or biochemical) genetics involves the diagnosis and management of inborn errors of metabolism in which patients have enzymatic deficiencies that perturb biochemical pathways involved in metabolism of carbohydrates, amino acids, and lipids. Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, and urea cycle disorders.

Cytogenetics is the study of chromosomes and chromosome abnormalities. While cytogenetics historically relied on microscopy to analyze chromosomes, new molecular technologies such as array comparative genomic hybridization are now becoming widely used. Examples of chromosome abnormalities include aneuploidy, chromosomal rearrangements, and genomic deletion/duplication disorders.

Molecular genetics involves the discovery of and laboratory testing for DNA mutations that underlie many single gene disorders. Examples of single gene disorders include achondroplasia, cystic fibrosis, Duchenne muscular dystrophy, hereditary breast cancer (BRCA1/2), Huntington disease, Marfan syndrome, Noonan syndrome, and Rett syndrome. Molecular tests are also used in the diagnosis of syndromes involving epigenetic abnormalities, such as Angelman syndrome, Beckwith-Wiedemann syndrome, Prader-willi syndrome, and uniparental disomy.

Mitochondrial genetics concerns the diagnosis and management of mitochondrial disorders, which have a molecular basis but often result in biochemical abnormalities due to deficient energy production.

There exists some overlap between medical genetic diagnostic laboratories and molecular pathology.

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Medical genetics - Wikipedia, the free encyclopedia

ANN ARBOR Many primary care pediatricians say they feel uncomfortable providing health care to patients with genetic disorders. Also, many do not consistently discuss all risks and benefits of genetic tests with patients, according to research published recently in the American Journal of Medical Genetics.

Investigators from the University of Michigans C.S. Mott Childrens Hospital and The Childrens Hospital at Montefiore (CHAM) conducted a national survey of 88 physicians who are part of the American Academy of Pediatrics Quality Improvement Innovation Networks, assessing their comfort level ordering genetic tests for their pediatric patients, their attitudes toward genetic medical care and their choices regarding taking family histories. The majority of those physicians reported ordering few genetic tests (three or less times) per year, excluding newborn screening which is federally mandated for all newborns; few (13 percent) strongly agreed that they discussed the potential risks, benefits, and limitations of genetic tests with all their patients and only half felt competent in providing healthcare to patients with genetic disorders.

While genetics has historically been viewed as a discipline focused on rare conditions, recent genomic advances have highlighted that genetics has a role in common conditions encountered in primary care medicine, said Dr. Beth Tarini, senior author, assistant professor of pediatrics, Child Health Evaluation & Research (CHEAR) Unit, Division of General Pediatrics, University of Michigan and co-medical director of the Genetics in Primary Care Institute (GPCI), a project of the American Academy of Pediatrics. Unfortunately, most PCPs have received insufficient education and training about genetics, which has left them uncertain about their role in providing genetics related care.

The study found that 100 percent of study participants stated that taking a family history is important, but less than one-third stated that they gather a minimum of a three-generation family history, a basic component of a genetic medical evaluation. Previous studies have shown that using family history and genetic information greatly improved outcomes for patients so researchers encourage patients to know their family history and share this with their providers in order to optimize their health care.

PCPs play an integral role in caring for children with genetic conditions and it is vital that they feel comfortable identifying issues and providing comprehensive care to suit their patients unique needs, said Dr. Michael L. Rinke, lead author and assistant medical director for quality, CHAM, and assistant professor of pediatrics at Albert Einstein College of Medicine of Yeshiva University. Thousands of children in the U.S. are diagnosed with genetic disorders annually and in order to optimize outcomes for these patients early identification and medical intervention is essential.

The researchers say that robust education, increased access to resources, improved electronic health records systems to document family histories and rigorous quality improvement efforts are key to enhancing integration of genetic medicine into routine primary preventative care.

Tarini says that the national Genetics in Primary Care Institute Quality Improvement Project hopes to identify effective strategies so that physicians who are at the forefront of diagnosing and managing patients with genetic disorders feel confident and competent in their abilities to provide care for these patients.

Investigators from the University of Michigans C.S. Mott Childrens Hospital and The Childrens Hospital at Montefiore (CHAM) conducted a national survey of 88 physicians who are part of the American Academy of Pediatrics Quality Improvement Innovation Networks, assessing their comfort level ordering genetic tests for their pediatric patients, their attitudes toward genetic medical care and their choices regarding taking family histories. The majority of those physicians reported ordering few genetic tests (three or less times) per year, excluding newborn screening which is federally mandated for all newborns; few (13 percent) strongly agreed that they discussed the potential risks, benefits, and limitations of genetic tests with all their patients and only half felt competent in providing healthcare to patients with genetic disorders.

While genetics has historically been viewed as a discipline focused on rare conditions, recent genomic advances have highlighted that genetics has a role in common conditions encountered in primary care medicine, said Dr. Beth Tarini, senior author, assistant professor of pediatrics, Child Health Evaluation & Research (CHEAR) Unit, Division of General Pediatrics, University of Michigan and co-medical director of the Genetics in Primary Care Institute (GPCI), a project of the American Academy of Pediatrics. Unfortunately, most PCPs have received insufficient education and training about genetics, which has left them uncertain about their role in providing genetics related care.

The study found that 100 percent of study participants stated that taking a family history is important, but less than one-third stated that they gather a minimum of a three-generation family history, a basic component of a genetic medical evaluation. Previous studies have shown that using family history and genetic information greatly improved outcomes for patients so researchers encourage patients to know their family history and share this with their providers in order to optimize their health care.

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ANN ARBOR: Study: Many pediatricians uncomfortable providing care to kids with genetic conditions

UNC School of Medicine Navigation Home Info

The mission of the department is to provide basic and applied genetic/genomic research, education and training at the interface between biology, chemistry, physics, computer science, mathematics, the social sciences, public health and medicine in order to have a profound effect on how medicine will be practiced in the future.

Our graduate programs train students to be creative, sophisticated research scientists prepared to pursue careers focused in genetics and genomics working in academic science, government, or commercial positions. Students conduct their dissertation research using diverse experimental approaches - from classical genetics to the most modern molecular methods - to address a broad range of contemporary problems in biomedical science.

The Department also includes a clinical arm focused on medical genetics, which covers the broad spectrum of clinical genetic research from disease prevention to diagnosis and treatment. This specialty includes evaluation, mutation discovery, counseling and risk assessment through analysis and genetic testing. Locating the clinical group alongside basic scientists facilitates integration of cutting edge genetic research with patient care.

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25-Dec-2013

Contact: Nicole Davis ndavis@broadinstitute.org 617-714-7152 Broad Institute of MIT and Harvard

Cambridge and Boston, MA; Los Angeles, CA; Mexico City, Mexico. Wed. December 25, 2013 An international team of researchers in Mexico and the United States has uncovered a new genetic clue that contributes to an increased risk of developing type 2 diabetes, particularly the elevated risk among Mexican and other Latin American populations.

The team, known as the SIGMA (Slim Initiative in Genomic Medicine for the Americas) Type 2 Diabetes Consortium, performed the largest genetic study to date in Mexican and Mexican American populations, discovering a risk gene for type 2 diabetes that had gone undetected in previous efforts. People who carry the higher risk version of the gene are 25 percent more likely to have diabetes than those who do not, and people who inherited copies from both parents are 50 percent more likely to have diabetes. The higher risk form of the gene has been found in up to half of people who have recent Native American ancestry, including Latin Americans. The variant is found in about 20 percent of East Asians and is rare in populations from Europe and Africa.

The elevated frequency of this risk gene in Latin Americans could account for as much as 20 percent of the populations' increased prevalence of type 2 diabetes the origins of which are not well understood.

"To date, genetic studies have largely used samples from people of European or Asian ancestry, which makes it possible to miss culprit genes that are altered at different frequencies in other populations," said co-corresponding author Jos Florez, a Broad associate member, an associate professor of medicine at Harvard Medical School and an Assistant Physician in the Diabetes Unit and the Center for Human Genetic Research at the Massachusetts General Hospital. "By expanding our search to include samples from Mexico and Latin America, we've found one of the strongest genetic risk factors discovered to date, which could illuminate new pathways to target with drugs and a deeper understanding of the disease."

A description of the discovery of the newly implicated gene named SLC16A11 and the consortium's efforts to characterize it, appear online in Nature December 25.

"We conducted the largest and most comprehensive genomic study of type 2 diabetes in Mexican populations to date. In addition to validating the relevance to Mexico of already known genetic risk factors, we discovered a major new risk factor that is much more common in Latin American populations than in other populations around the world. We are already using this information to design new studies that aim to understand how this variant influences metabolism and disease, with the hope of eventually developing improved risk assessment and possibly therapy," said Teresa Tusie-Luna, project leader at the Instituto Nacional de Ciencias Mdicas y Nutricin Salvador Zubirn and principal investigator at the Biomedical Research Institute, National University of Mexico.

This work was conducted as part of the Slim Initiative for Genomic Medicine for the Americas (SIGMA), a joint U.S.-Mexico project funded by the Carlos Slim Foundation through the Carlos Slim Health Institute. SIGMA focuses on several key diseases with particular relevance to public health in Mexico and Latin America, including type 2 diabetes and cancer. The current paper is the team's first report on type 2 diabetes.

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New genetic risk factor for type 2 diabetes revealed

December 26, 2013

redOrbit Staff & Wire Reports Your Universe Online

A previously undetected genetic risk factor could help explain why there is an elevated risk of type 2 diabetes among Mexican and other Latin American populations, according to a new study published online Wednesday in the journal Nature.

In the study, an international team of researchers known as the SIGMA (Slim Initiative in Genomic Medicine for the Americas) Type 2 Diabetes Consortium performed the largest genetic study to date in people of Mexican and Mexican-American descent. They discovered that people who had the higher-risk version of the gene SLC16A11 could be 25 percent more likely to have diabetes than those lacking said gene.

Furthermore, individuals who inherit copies from both patents are 50 percent more likely to have diabetes. The higher-risk version has been found in up to half of people with recent Native American ancestry (including Latin Americans) as well as 20 percent of East Asians, and elevated frequency of SLC16A11 in Latin American could account for up to one-fifth of the populations increased prevalence of diabetes, the authors explained.

To date, genetic studies have largely used samples from people of European or Asian ancestry, which makes it possible to miss culprit genes that are altered at different frequencies in other populations, said co-corresponding author Jos Florez, an assistant physician in the Massachusetts General Hospital Diabetes Unit. By expanding our search to include samples from Mexico and Latin America, weve found one of the strongest genetic risk factors discovered to date, which could illuminate new pathways to target with drugs and a deeper understanding of the disease.

In addition to validating the relevance to Mexico of already known genetic risk factors, we discovered a major new risk factor that is much more common in Latin American populations than in other populations around the world, added Teresa Tusie-Luna, principal investigator at the National University of Mexicos Biomedical Research Institute. We are already using this information to design new studies that aim to understand how this variant influences metabolism and disease, with the hope of eventually developing improved risk assessment and possibly therapy.

According to BBC News Science Editor Paul Rincon, the SLC16A11 sequence discovered by the SIGMA team was found in a recently sequenced Neanderthal genome originating from Denisova cave in Siberia. That would suggest, he explained, that the gene variant might have been inherited by the ancient, now-extinct species of early human.

This marks the first time that SLC16A11, which belongs to a family of genes that code for proteins that transport metabolites, has been identified as factoring into a human disease. As such, the researchers said that little information was previously available about its function. The study authors report that SLC16A11 is expressed in the endoplasmic reticulum, a cellular structure located within the liver.

Furthermore, the SIGMA investigators went on to demonstrate that altering levels of the protein could change the amount of a type of fat that had previously been implicated in the risk of diabetes. That discovery led the team to hypothesize that SLC16A11 could be involved in the transport of an unknown metabolite a metabolite which affects fat levels in cells, resulting in an increased risk of type 2 diabetes.

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New Diabetes-Related Genetic Risk Factor Discovered

The Perfect 46 is a coming movie in which people are routinely tested to find an ideal genetic partner with whom to create a child. In the real world, things are almost as far-out. Some companies can screen and alert you to DNA variants that might combine with your partner's to produce an offspring with a rare, single-gene disease, such as cystic fibrosis. Others look for genetic indications that you could develop a disease down the road, so you can make decisions about prevention or medical treatment.

But there are lots of questions about how reliable these mail-in-a-vial-of-blood-or-saliva genetic tests are. The U.S. Food and Drug Administration has ordered one big-buzz company to stop shipping its $99 spit kit. Seems the company can't prove the accuracy of its tests for 254 genetic problems and was suggesting what people might do with test results. That could have devastating consequences. For example, a false-positive result for a high-risk gene-linked condition such breast cancer might lead a woman to have a mastectomy when she didn't really need to consider having one.

So whether you're curious about your genome or you have a family history of a disorder that you want to avoid passing on to your children, get tested only if advised by a doctor whos trained in genetic medicine and have a second test done to confirm results. These tests will get more accurate, but they arent there yet.

A real fountain of youth is inside you: the sweat that comes from physical activity. A new eight-year study looked at 3,500 folks around age 65: Those whod always gotten moderate or vigorous exercise were seven times more likely to have healthy aging; even those who didnt exercise until they were already old tripled their chances of a healthy old age. When you're sweatin and smilin, dementia and depression, as well as heart disease, cancer and Type 2 diabetes, just happen less often.

The two keys to keeping active or to getting movin as you age: Having a group or partner to do it with, and finding an activity you enjoy. So sign up for a group class at the gym or get a workout buddy or online coach to support you. And experiment with walking, jogging, cycling, swimming, yoga and strength-building or flexibility exercises to see what sustains your interest. Then sweat it out for at least 30 minutes daily! P.S. You cut the risk of stroke 20 percent by sweating four times a week.

Nothing about 3-D ever has been as life-changing as the way 3-D in mammograms can see breast tissue. Digital breast tomosynthesis, the name for these high-tech trouble-spotters, can identify 22 percent more cancers and avoid many false-positives (and unnecessary biopsies, particularly among women with dense breast tissue and younger women) that result from use of conventional digital mammogram machines.

And theyre potentially lifesaving for people with a family history of BRCA-2 breast cancer. New information reveals that family members who test BRCA-2-free are still at a much-increased risk of breast cancer, compared with folks with who have no family history of BRCA-2. For them, mammograms need to be as accurate as possible, every time, and 3-D images are just that.

Other people who might be grateful for the imaging power of tomosynthesis? Anyone with high LDL cholesterol is at increased risk for estrogen-dependent breast cancer (about 75 percent of breast cancers). Thats because a byproduct of cholesterol acts like estrogen in the body, making folks with high cholesterol more vulnerable. Regular 3-D screenings can catch breast cancer at its earliest and most curable stage.

Bonus tip: If you have elevated LDL, taking a cholesterol-lowering statin and aspirin are smart ways to reduce breast-cancer risk; statins reduce the estrogen-like powers of that cholesterol byproduct, and a daily aspirin cuts the risk by 40 percent.

Want to bring a little good cheer into a friend's life for various occasions scattered over the New Year? (Not a bad resolution.) Heres our list of eight mini-gifts that will make everyone healthier and happier (including you, because giving is a great feeling).

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Beware accuracy of mail-in genetic tests

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